Me kōrero tātou mō te Familial Dysautonomia: He mate pūnaha io tuku iho!

Kua rongo kē koe i tētahi wā ka puta aunoa ētahi mea i roto i tō tātou tinana, kāore tātou e mōhio? Whakaarohia, te manawa, te nakunaku kai, te whakahaere i te pāmahana o tō tātou tinana, te huware, te tangi... Ka puta aunoa ēnei mea katoa i roto i tō tātou tinana, arā, kāore tātou e whakaaro ki aua mea. Engari, he aha te mea ka tupu mēnā he ngoikore, he raruraru rānei kei roto i tō tātou pūnaha io , e whakahaere ana i ēnei mea aunoa? I tēnei rā ka kōrero tātou mō tētahi mate whānau onge, engari he tino kino. Ko te ingoa o tēnei ko te Familial Dysautonomia (FD) .

He aha te Family Dysautonomia?

Ki te whakarapopototanga, ko te familial dysautonomia (FD) he mate whānau e pā ana ki tō pūnaha io. Ko te nuinga o te wā ka pā ki ngā wāhanga o tō tinana e whakahaere ana i ngā tukanga aunoa . Arā:

• Te manawa
• Te nakunaku
• Ngā roimata e puta ana
• Te whakahaere i te toto toto me te pāmahana tinana
• Te hanganga o te huware

Haunga tēnei, ka pāngia anō hoki tō pūnaha io tairongo . Ko tōna tikanga:

• Te reka
• Te aro ki te mamae me te pāmahana

Nā te whakarerekētanga ira i tukuna iho mai i ngā mātua tēnei mate. Ko tēnei mate, e kiia ana ko te Familial Dysautonomia, e mōhiotia ana hoki ko:

• Te mate Riley-Day
• Te momo HSAN III o te neuropathy tuku iho o ngā āhuatanga pūngao me ngā āhuatanga motuhake (Momo III o te neuropathy tuku iho o ngā āhuatanga pūngao me ngā āhuatanga motuhake - HSAN momo III)

Heoi, ka taea e tēnei āhuatanga dysautonomia whānau te whakaroa i te whanaketanga o ngā tamariki, ā, ka taea hoki te whakapoto i ō rātou oranga.

Ko wai te mea ka nui ake te tūponotanga ka pāngia e tēnei mate?

Ko te Familial Dysautonomia me tuku iho e te tamaiti tētahi ira hapa mai i ngā mātua e rua . He tino onge tēnei mate. He mea tino kitea i waenga i te hunga nō te uri Hūrai Ashkenazi . E ai ki ngā pūrongo, tata ki te kotahi i roto i te 10,000 Hūrai Ashkenazi i te United States, me te tata ki te kotahi i roto i te 3,700 i Iharaira ka whānau mai me tēnei mate. Ko te tikanga ehara tēnei i te mate e pā ana ki te katoa.

He aha te take mō tēnei?

Nā ngā whakarerekētanga ira i puta ai tēnei. Me mau i ō mātua e rua tētahi whakarerekētanga ira i roto i tētahi ira e kiia nei ko te ELP1 . Ka hangaia e tēnei ira ELP1 tētahi pūmua hei āwhina i te whanaketanga o tō pūnaha io. Nō reira, ki te mea he whakarerekētanga ira, he ngoikoretanga rānei, i roto i tēnei ira, ka puta he raruraru ki te mahi a ngā wāhanga o te pūnaha io. Hei whakarāpopototanga, ki te ngaro tētahi taonga nui i te wā e hanga ana i tētahi whare, ka pakaru te whare katoa.

He aha ngā tohu o te Familial Dysautonomia (FD)?

Ka tīmata ngā tohu o tēnei mate i te wā pēpi . Ko ngā tohu tōmua ko:

• Te uauatanga o te ngote: He uaua ki te pēpi nohinohi te ngote tika.
• Te uaua ki te horomi (dysphagia): Te uaua ki te horomi i te kai me te inu, me te mea kei te kōkō.
• Te kore e taea te pupuri i te pāmahana tinana: Ka piki, ka heke rānei te pāmahana o te tinana i te wā ohorere.
• Te korenga o te roimata i te wā e tangi ana: He tohu tino motuhake tēnei. Kāore te tamaiti nohinohi e maringi ana ōna roimata i te wā e tangi ana.
• Tupu ngoikore: Kāore te taumaha me te teitei o te pēpi e piki ake i runga i tōna pakeke.
• Ngoikore o te uaua (hypotonia): Ka ngoikore haere te tinana, ka ngoikore haere.

I te pakeketanga o te tamaiti, ka pupuri pea ia i tōna manawa i ētahi wā, me te mea kei te kōroke ia. Engari ka ngaro atu tēnei pupuri manawa i te ono o ōna tau.

I te whanaketanga o te mate, ka puta pea ētahi atu tohu:

• Ngā rerekētanga o te pā o te ngakau (arrhythmia): Ka rerekē te tere o te ngakau.
• Ngā rerekētanga o te reka: Kāore pea koe e kaha ki te reka tika i te kai.
• Te piko rerekē o te tuaiwi (scoliosis): Te āhua nei he piko te tuaiwi ki tetahi taha.
• Ngā raruraru taurite me ngā mate haere: Te uaua ki te hikoi, te tūponotanga o te hinga.
• Mīti i te moenga: Te mākū i te moenga i te pō i a koe e moe ana.
• Te whakapūngao waikawa mau tonu (GERD): He maha ngā wā ka pā te mamae o te uma, ka piki ake te mamae ki te korokoro.
• Ngā whakaroa whanaketanga: Ka whakaroahia ngā mea pēnei i te kōrero me te hikoi.
• Te nui rawa o te huware.
• Ngā raruraru kanohi: ngā mea pēnei i te kanohi maroke, te strabismus.
• Te kore e rongo i te mamae me ngā huringa o te pāmahana: Kāore e rongohia tika te wera, te makariri, ngā motu, me ngā patunga.
• Te ngoikore o te tirohanga me te ngaronga o te tirohanga.
• Ngā mate pūkahukahu: Ka puta pinepine ngā mate nā te nui haere o te hūpē i roto i ngā pūkahukahu.
• Te ngoikore o ngā wheua (osteoporosis) me te piki ake o te mōrearea o ngā whati.
• Ngā ngoikore ki te whakahaere i te manawa, inā koa i te wā e moe ana.
• Ngā āhuatanga hopuhopu pērā i te mate haurangi.
• Te ruaki.

He maha ngā tāngata e pāngia ana e te familial dysautonomia he uaua ki te whakahaere i ō rātou toto toto . Ka taea e tēnei te whakaheke i te toto toto i te wā e tū ana (orthostatic hypotension), ka taea ai te whanoke me te hemo. Ka taea hoki e te toto toto tiketike (hypertension) te arahi ki te mate tākihi.

Tata ki te 40% o te hunga whai mate pēnei ka pāngia e ngā wā e kiia nei ko ngā "autonomic crises" ina ka kino haere ngā tohu. I ēnei wā, ka puta pea ēnei e whai ake nei:

• Te kirika.
• Ngā tere o te ngakau.
• Te toto toto tiketike.
• Te whero o te kiri.
• Te werawera.
• Te ruaki.

Whakaarohia te uaua o te noho tonu o ēnei momo raruraru ki tētahi tamaiti nohinohi. He uaua hoki ki ngā mātua te whakamanawanui i tēnei. Engari he otinga kei reira mō ēnei mea katoa e ai ki ngā tohutohu a te rata.

Me pēhea te tātaritanga o te Familial Dysautonomia (FD)?

Ka pātai tuatahi tō tākuta ki a koe mō ō tohumate , kātahi ka whakahaere i tētahi whakamātautau tinana .

Ko te mea nui ko te tirotiro mēnā ka puta mai ngā roimata ina tangi koe. Mō ngā pēpi kei raro iho i te 6 marama te pakeke, ka mahia he whakamātautau e kiia nei ko te whakamātautau Schirmer :

• Ko tāu mahi he whakatakoto i tētahi pepa tātari iti ki te taha o roto o te kamo o raro o te pēpi.
• Ki te mea i muri i ngā meneti e rima, he iti iho i te 10 miririta te nui o te makuku i roto i te rau, e whakapaetia ana kei te pāngia te pēpi e te familial dysautonomia.

Hei tāpiritanga, ka tirohia anō hoki e te tākuta ēnei mea:

• Te hekenga o ngā urupare o ngā uaua: Mena he FD tōu, e kore ō uaua e urupare ina patohia mārire e te tākuta.
• Te tauhohenga ki te werohanga histamine: Ina werohangahia te tangata whai FD, kāore te kiri e whero, e pupuhi pērā i te tangata noa.
• Te uruparenga ki te methacholine: Tata ki te 20 meneti i muri i te whakamahinga o tēnei rongoā, ka mimiti te kamo o te kanohi mēnā kei te kitea te FD.
• Te āhua maeneene o te arero: Ki te whai FD koe, ka āhua maeneene tō arero nā te mea kua ngaro ngā puku reka (ngā papillae fungiform) kei waenganui o muri o tō arero.

Ki te kite koe i ēnei tohu, ka tūtohu pea tō tākuta kia whakamātauria he whakamātautau ira , arā, ko te tango i tētahi tauira toto me te tirotiro mō ngā whakarerekētanga ira e hua ai te whānautanga o te dysautonomia.

He aha ngā maimoatanga mō te Familial Dysautonomia (FD)?

Ko te arotahi matua o te maimoatanga mō te FD ko te whakaiti i ngā tohu . He maha ngā maimoatanga e wātea ana mō tēnei:

• Mō ngā mate pūkahukahu: Ngā rongoā paturopi, ngā rongoā whakaora tinana rānei mō te uma.
• Mō te whakaheke toto orthostatic: He tōkena kōpeketanga, he taputapu whakatere toto tuturu rānei.
• Mō ngā raruraru manawa i te wā moe: Ngā taputapu pēnei i te CPAP, BiPAP® rānei (Bilevel Positive Airway Pressure).
• Hei tiaki i te kornea o ngā kanohi: Ngā pata kanohi.
• Mō te matewai i te ruaki: Hoatu he wai tote ki roto i te uaua (he wai IV).
• Mō te GERD, te mate tākihi, te whakaputa huware, te mate haurangi, te ruaki rānei: ngā momo rongoā rerekē.
• Hei whakamāmā ake i ngā mahi o ia rā: Te whakaora mahi.
• Hei whakapai ake i te taurite: Te whakaora tinana.
• Mō ngā raruraru tuara: Pokanga.
• Hei whakanui ake i te kai: Te whāngai mā te ngongo (te kai enteral).

I tēnei wā tonu, kei te whakahaerehia tonutia e ngā kairangahau ngā whakamātautau haumanu o ngā maimoatanga hou . Ko te tumanako ka taea e ēnei maimoatanga te rongoā i ngā tohumate me te mate tonu hoki.

Ka taea te whakaiti i te mōrearea o te whānau dysautonomia (FD)?

Kāore e taea te whakaiti i te mōrearea o te whakawhanaketanga o te FD, nā te mea he ira tuku iho. Heoi, he mea nui kia mōhio ki ngā tohu me te rapu awhina hauora me te maimoatanga i te wā e taea ai .

Mena nō te uri Hūrai Ashkenazi koe, ā, kei te whakaaro koe ki te whānau tamariki, he mea pai kia rapu tohutohu ira koe . Tērā pea ka tūtohu tō tākuta kia whakamātauria he whakamātautau ira hei tirotiro mēnā kei a koe te ira ELP1 i mua atu, i te wā rānei e hapu ana.

He aha te tirohanga mō te tangata e pāngia ana e te Familial Dysautonomia (FD)?

Kāore he rongoā mō te dysautonomia whānau. He poto ake te roanga o te oranga o te hunga whai mate pēnei i te taupori whānui. Tata ki te haurua o ēnei tāngata e ora ana ki te 30 tau. Ko ētahi pea e ora ana ki te 70 tau.

Tērā pea ka mataku koe, ka pouri hoki i te rongonga i tēnei. Engari kia maumahara, mā te maimoatanga tika me te tiaki pai, ka taea e koe te āwhina i ēnei tāngata kia ora i te oranga pai me te oranga whai hua.

Ka kino haere pea ngā tohu i te roanga o te wā. Hei tauira, tata ki te 49% o te hunga whai FD ka hiahia āwhina ki te hikoi i te 50 tau te pakeke. Tērā pea ka pāngia rātou e ngā mate pūkahukahu maha, pērā i te niumōnia .

Me pēhea te tiaki a te tangata whai Familial Dysautonomia (FD) i a ia anō?

Ka taea e koe te āwhina i te whakaiti i ngā raruraru mā te whai i ēnei mahi:

• Āta karohia te rangi wera, te rangi makuku rānei.
• Whakawhāitihia ngā āhuatanga taumaha.
• Āta karohia ngā haerenga roa.
• Kaua e tatari kia kī tonu tō pūkahukahu.

Me tirotiro anō hoki e tō tākuta ēnei mea i ia wā :

• Te toto toto.
• Ngā kanohi.
• Te mahi a te whatukuhu.
• Te mahi manawa.
• Tuaiwi.

Karere Tangohia ki te Kāinga

Ko te dysautonomia whānau (FD) he mate ira onge e pā ana ki tō pūnaha io. Ka pā motuhake ki ngā mahi kore e taea te whakahaere pērā i te manawa, te nakunaku, te whakaputa roimata, te whakahaere toto me te pāmahana tinana, me te whakaputa huware. Ka pā anō hoki ki ngā mahi a ngā kare ā-roto pērā i te reka, te mamae, me te pāmahana.

Ahakoa kāore he rongoā katoa mō tēnei, mā ngā maimoatanga pēnei i ngā rongoā, ngā momo whakaora tinana, me te pokanga ka taea te whakahaere i ngā tohu me te whakamāmā ake i te oranga.Ahakoa he poto ake te roa o te oranga o te hunga whai mate pāwera whānau, mā te maimoatanga me te tiaki tika, ka taea e rātou te noho ora pai rawa atu. Ko te mea nui ko te rapu tohutohu hauora i te wā wawe mēnā ka pāngia koe e ngā tohu, me te noho tonu i raro i te tirotiro hauora.

` Te ngoikore o te pūnaha io, ngā mate ira, te mate Riley-Day, te hauora o te tamaiti, ngā tohu, te maimoatanga